Inclusion body myositis refers to a group of conditions which share some clinical features of progressive muscle weakness and wasting and also have similar features on a muscle biopsy, where […]
Read MoreIs newborn screening available for muscular dystrophy?
Newborn screening aims to detect potentially fatal or disabling conditions in newborns as early as possible, often before the infant displays any signs or symptoms of a disease or condition. […]
Read MoreTwo of my baby brothers have Duchenne muscular dystrophy. My mother is a carrier. What are the chances of me being a carrier?
Duchenne muscular dystrophy is a different inherited degenerative muscle disease. It predominantly affects males, as the gene involved is located on the X chromosome. If a mother is a carrier, […]
Read MoreWhat is LMNA-related congenital muscular dystrophy?
This term refers to a particular rare type of genetic muscle disease that presents with muscle weakness which typically becomes apparent in infancy or early childhood (congenital) and can worsen […]
Read MoreWhat is the role of creatine kinase (CK) determination in the evaluation of muscular dystrophy?
Creatine kinase (CK) is an important protein in muscle cells. It is also found in the heart, brain, and other tissues, but at lower levels. Increased amounts of CK are […]
Read MoreCan the number of deletions on gene 4q be used as an indicator for prognosis for facioscapulohumeral muscular dystrophy ?
Facioscapulohumeral muscular dystrophy (FSHD) typically presents with slowly progressive weakness of the facial muscles, scapular winging and foot drop. The severity is highly variable within and between families. The diagnosis […]
Read MoreDuchenne and Becker muscular dystrophies have similar signs and symptoms. Is there a genetic difference to inform a diagnosis?
Duchenne and Becker muscular dystrophy are part of a spectrum of disease now more correctly called dystrophinopathies, as they are due to genetic faults (mutations) in a gene called dystrophin. […]
Read MoreUse of creatine and steroids
The use of creatine and steroids is dealt with here in response to two questions received. I have muscular dystrophy. Friends have suggested using the supplement creatine to build muscles. […]
Read MoreGenetic testing
What is genetic testing? Genetic testing is a type of medical test that identifies the changes in our genes that cause disease. It is usually performed by studying DNA – […]
Read MoreCare management protocols in South Africa for patients with muscular dystrophies
Care management protocols are a team-based, patient-centred approach designed to assist patients and their support systems in managing medical conditions more effectively. No specific protocols that are nationally approved and […]
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